The panel testing revealed a heterozygous PCDH19 pathogenic variant in the patient with Klinefelter syndrome (patient 5) (Table 2), explaining his epilepsy.20 The other 2 patients (patients 11 and 15) had recurrent microdeletions (16p11.2 and 22q11.22q11.23, respectively) identified by concurrent CMA. Here, PCDH19 is linked to Klinefelter syndrome.