She was diagnosed with WS by chromosomal microarray (CytoScan Dx Assays), which showed a 7q11.23 microdeletion including RFC2 (arr 7q11.23[72,701,084–74,142,190] x 1 [1.4 Mb deletion], reference genome GRCh37/hg19). The gene discussed is RFC2; the disease is Werner syndrome.